### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAMK2G) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CAMK2G" "calcium/calmodulin-dependent protein kinase II gamma" "10" "q22" "unknown" "NC_000010.10" "UD_132118240394" "" "https://www.LOVD.nl/CAMK2G" "" "1" "1463" "818" "602123" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-02 17:39:23" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004308" "CAMK2G" "transcript variant 2" "006" "NM_172169.2" "" "NP_751909.1" "" "" "" "-130" "3601" "1584" "75634349" "75572259" "" "0000-00-00 00:00:00" "" "" "00025904" "CAMK2G" "transcript variant 36 (removed from reference sequence) (removed from reference sequence) (removed from reference sequence) (removed from reference sequence) (removed from reference sequence)" "000" "NM_001367543.1" "" "NP_001354472.1" "" "" "" "-94" "3670" "1653" "1" "1" "00006" "2024-02-02 16:43:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "06094" "MRD59" "Mental retardation, autosomal dominant 59" "AD" "618522" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CAMK2G" "00139" "CAMK2G" "06094" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00183053" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio32" "00447932" "" "" "" "1" "" "00006" "{PMID:Proietti Onori 2018:30184290}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat2" "00447942" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00183053" "00139" "00447932" "00139" "00447942" "00841" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00841, 06094 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143806" "00139" "00183053" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "0000337125" "00139" "00447932" "00006" "Isolated (sporadic)" "05y" "see paper; ..., infancy generalized hypotonia, developmental delay, remained hypotonic with markedly delayed gross motor and speech/language skills; 5y-severe intellectual disability, autism; relative macrocephaly, prominent capillary vascular malformations forehead and glabella, minor dysmorphic facial features, severe hypotonia" "" "" "" "" "" "" "" "" "MRD59" "intellectual disability" "0000337135" "00841" "00447942" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay, spastic cerebral palsy, postnatal microcephaly; seizure types flexor spasms, tonic spasms, generalized tonic clonic; EEG Hypsarrhythmia, multifocal spike wave; MRI brain delayed myelination" "4m" "" "" "" "" "" "" "" "MRD59" "early infantile epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184013" "00183053" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449503" "00447932" "1" "00006" "00006" "2024-02-02 16:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "clincal WES" "0000449513" "00447942" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 18 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000266472" "0" "10" "10" "75632760" "75632760" "subst" "0.433938" "02325" "CAMK2G_000001" "g.75632760C>T" "" "" "" "CAMK2G(NM_172171.3):c.147G>A (p.K49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73873002C>T" "" "benign" "" "0000407951" "0" "70" "10" "75602244" "75602244" "subst" "0" "00006" "CAMK2G_000002" "g.75602244C>G" "" "{PMID:de Ligt 2012:23033978}" "" "NM_172171.2:c.875G>C (Arg292Pro)" "candidate variant" "De novo" "" "" "0" "" "" "g.73842486C>G" "" "likely pathogenic (dominant)" "" "0000690776" "0" "50" "10" "75602245" "75602245" "subst" "0" "02327" "CAMK2G_000004" "g.75602245G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722924" "0" "50" "10" "75620618" "75620618" "subst" "0" "02325" "CAMK2G_000005" "g.75620618T>A" "" "" "" "CAMK2G(NM_172171.3):c.190A>T (p.I64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852572" "0" "50" "10" "75612995" "75612995" "subst" "0" "02325" "CAMK2G_000006" "g.75612995T>C" "" "" "" "CAMK2G(NM_172171.3):c.230A>G (p.H77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861983" "0" "50" "10" "75613007" "75613007" "subst" "0" "02329" "CAMK2G_000007" "g.75613007G>C" "" "" "" "CAMK2G(NM_001367542.1):c.-533-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889232" "0" "50" "10" "75581464" "75581464" "subst" "0" "02325" "CAMK2G_000008" "g.75581464T>C" "" "" "" "CAMK2G(NM_172171.3):c.1129A>G (p.T377A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959721" "0" "90" "10" "75602244" "75602244" "subst" "0" "00006" "CAMK2G_000002" "g.75602244C>G" "" "{PMID:Proietti Onori 2018:30184290}" "" "" "functional characterization of variant" "De novo" "" "" "0" "" "" "g.73842486C>G" "" "pathogenic (dominant)" "" "0000959731" "0" "70" "10" "75607083" "75607083" "subst" "4.06072E-6" "00006" "CAMK2G_000009" "g.75607083G>A" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PP2, PP3; candidate disease gene" "De novo" "" "" "0" "" "" "g.73847325G>A" "" "likely pathogenic (dominant)" "ACMG" "0000979139" "0" "50" "10" "75575006" "75575006" "subst" "0" "01804" "CAMK2G_000010" "g.75575006C>G" "" "" "" "CAMK2G(NM_001367534.1):c.1535-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979140" "0" "30" "10" "75576609" "75576609" "subst" "0" "01804" "CAMK2G_000011" "g.75576609G>A" "" "" "" "CAMK2G(NM_001320898.2):c.1637C>T (p.(Pro546Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979141" "0" "30" "10" "75577316" "75577316" "subst" "4.0624E-6" "01804" "CAMK2G_000012" "g.75577316T>G" "" "" "" "CAMK2G(NM_001367534.1):c.1364-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979142" "0" "30" "10" "75602207" "75602207" "subst" "0.000170557" "01804" "CAMK2G_000013" "g.75602207G>A" "" "" "" "CAMK2G(NM_001367534.1):c.903+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998497" "0" "30" "10" "75583809" "75583809" "subst" "0" "01804" "CAMK2G_000014" "g.75583809C>T" "" "" "" "CAMK2G(NM_001204492.1):c.1156G>A (p.(Glu386Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014653" "0" "50" "10" "75599315" "75599315" "subst" "0" "02325" "CAMK2G_000015" "g.75599315C>T" "" "" "" "CAMK2G(NM_172171.3):c.947-2046G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038001" "0" "30" "10" "75577281" "75577281" "subst" "5.6856E-5" "01804" "CAMK2G_000016" "g.75577281T>C" "" "" "" "CAMK2G(NM_001367526.1):c.1358A>G (p.(Asn453Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038002" "0" "30" "10" "75587837" "75587837" "subst" "2.84423E-5" "01804" "CAMK2G_000017" "g.75587837C>T" "" "" "" "CAMK2G(NM_001367534.1):c.1086+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038003" "0" "50" "10" "75608313" "75608313" "subst" "0" "01804" "CAMK2G_000018" "g.75608313T>C" "" "" "" "CAMK2G(NM_001367540.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CAMK2G ## Count = 31 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000266472" "00004308" "10" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Lys49=)" "" "0000407951" "00004308" "70" "875" "0" "875" "0" "c.875G>C" "r.(?)" "p.(Arg292Pro)" "" "0000690776" "00004308" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "0000722924" "00004308" "50" "190" "0" "190" "0" "c.190A>T" "r.(?)" "p.(Ile64Leu)" "" "0000852572" "00025904" "50" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(His77Arg)" "" "0000852572" "00004308" "50" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(His77Arg)" "" "0000861983" "00025904" "50" "221" "-3" "221" "-3" "c.221-3C>G" "r.spl?" "p.?" "" "0000861983" "00004308" "50" "221" "-3" "221" "-3" "c.221-3C>G" "r.spl?" "p.?" "" "0000889232" "00025904" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Thr409Ala)" "" "0000889232" "00004308" "50" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Thr386Ala)" "" "0000959721" "00025904" "90" "875" "0" "875" "0" "c.875G>C" "r.(?)" "p.(Arg292Pro)" "" "0000959721" "00004308" "90" "875" "0" "875" "0" "c.875G>C" "r.(?)" "p.(Arg292Pro)" "" "0000959731" "00004308" "70" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" "" "0000979139" "00025904" "50" "1421" "-1" "1421" "-1" "c.1421-1G>C" "r.spl?" "p.?" "" "0000979139" "00004308" "50" "1352" "-1" "1352" "-1" "c.1352-1G>C" "r.spl?" "p.?" "" "0000979140" "00025904" "30" "1420" "172" "1420" "172" "c.1420+172C>T" "r.(=)" "p.(=)" "" "0000979140" "00004308" "30" "1351" "172" "1351" "172" "c.1351+172C>T" "r.(=)" "p.(=)" "" "0000979141" "00025904" "30" "1250" "-4" "1250" "-4" "c.1250-4A>C" "r.spl?" "p.?" "" "0000979141" "00004308" "30" "1181" "-4" "1181" "-4" "c.1181-4A>C" "r.spl?" "p.?" "" "0000979142" "00025904" "30" "903" "9" "903" "9" "c.903+9C>T" "r.(=)" "p.(=)" "" "0000979142" "00004308" "30" "903" "9" "903" "9" "c.903+9C>T" "r.(=)" "p.(=)" "" "0000998497" "00025904" "30" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Asp397Asn)" "" "0000998497" "00004308" "30" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "" "0001014653" "00025904" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0001014653" "00004308" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" "0001038001" "00025904" "30" "1281" "0" "1281" "0" "c.1281A>G" "r.(?)" "p.(Glu427=)" "" "0001038001" "00004308" "30" "1212" "0" "1212" "0" "c.1212A>G" "r.(?)" "p.(=)" "" "0001038002" "00025904" "30" "1086" "10" "1086" "10" "c.1086+10G>A" "r.(=)" "p.(=)" "" "0001038002" "00004308" "30" "1086" "10" "1086" "10" "c.1086+10G>A" "r.(=)" "p.(=)" "" "0001038003" "00025904" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Tyr191Cys)" "" "0001038003" "00004308" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Tyr191Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000184013" "0000407951" "0000449503" "0000959721" "0000449513" "0000959731"